LMBR1

LMBR1
Identifiers
Aliases	LMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1
External IDs	OMIM: 605522; MGI: 1861746; HomoloGene: 49706; GeneCards: LMBR1; OMA:LMBR1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	156,893,216 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	29,583,388 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; Achilles tendon; ; bone marrow cells; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; epithelium of colon; ; ganglionic eminence; ; islet of Langerhans; ; smooth muscle tissue;
	Top expressed in
	spermatid; ; spermatocyte; ; Rostral migratory stream; ; substantia nigra; ; primary oocyte; ; nucleus accumbens; ; interventricular septum; ; secondary oocyte; ; Paneth cell; ; temporal lobe;
	More reference expression data
	n/a
Orthologs
	64327
	56873
	ENSG00000105983
	ENSMUSG00000010721
	Q8WVP7
	Q9JIT0
NM_022458; NM_001350953; NM_001350954; NM_001350955; NM_001350956;
	NM_001350957; NM_001350958; NM_001363409; NM_001363410; NM_001363411; NM_001363412; NM_001363413
	NM_020295
NP_071903; NP_001337882; NP_001337883; NP_001337884; NP_001337885;
	NP_001337886; NP_001337887; NP_001350338; NP_001350339; NP_001350340; NP_001350341; NP_001350342
	NP_064691
	Wikidata
View/Edit Human	View/Edit Mouse

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog (protein) gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but if this gene functions directly in limb development is unknown. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.